Incidental Mutation 'R0847:Tnfrsf21'
ID 77035
Institutional Source Beutler Lab
Gene Symbol Tnfrsf21
Ensembl Gene ENSMUSG00000023915
Gene Name tumor necrosis factor receptor superfamily, member 21
Synonyms TR7, Death receptor 6, DR6
MMRRC Submission 039026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R0847 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 43327446-43400079 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43349104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 239 (H239Y)
Ref Sequence ENSEMBL: ENSMUSP00000024708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024708]
AlphaFold Q9EPU5
Predicted Effect probably benign
Transcript: ENSMUST00000024708
AA Change: H239Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: H239Y

DomainStartEndE-ValueType
TNFR 50 88 1.58e1 SMART
TNFR 91 131 3.42e-3 SMART
TNFR 133 168 9.31e-5 SMART
TNFR 171 211 1.1e-1 SMART
transmembrane domain 351 370 N/A INTRINSIC
DEATH 393 498 1.41e-22 SMART
low complexity region 511 526 N/A INTRINSIC
low complexity region 562 575 N/A INTRINSIC
PDB:2DBH|A 576 655 5e-48 PDB
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell differentiation and an enhanced Th2 response. Mice homozygous for a different knock-out allele show increased CD4+ T cell proliferation and Th2 cytokine production, and enhanced B cell proliferation, survival, and humoral responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,895,764 (GRCm39) I899T probably damaging Het
Ahnak C T 19: 8,983,797 (GRCm39) Q1694* probably null Het
Cblc A T 7: 19,524,459 (GRCm39) Y260* probably null Het
Ccn4 T G 15: 66,791,124 (GRCm39) C309G probably damaging Het
Ceacam5 A G 7: 17,491,762 (GRCm39) T711A possibly damaging Het
Cep63 A G 9: 102,465,957 (GRCm39) S690P probably benign Het
Chia1 A T 3: 106,039,253 (GRCm39) I448F probably benign Het
Dmxl2 A T 9: 54,313,112 (GRCm39) F1712I probably damaging Het
Ecpas G A 4: 58,841,439 (GRCm39) T645I probably benign Het
Exosc3 A G 4: 45,319,695 (GRCm39) V109A probably damaging Het
Fxyd7 A G 7: 30,744,029 (GRCm39) C60R probably damaging Het
Gm17349 C A 15: 99,600,289 (GRCm39) probably benign Het
Gpn2 A G 4: 133,315,906 (GRCm39) N199D probably benign Het
Ints12 C T 3: 132,814,603 (GRCm39) T270M possibly damaging Het
Kdm4a C T 4: 118,021,695 (GRCm39) E266K probably damaging Het
Kremen2 G T 17: 23,963,634 (GRCm39) T50N probably damaging Het
Macf1 A T 4: 123,293,159 (GRCm39) D1249E probably benign Het
Mdga2 T A 12: 66,769,854 (GRCm39) K146N probably damaging Het
Med20 G A 17: 47,922,618 (GRCm39) probably null Het
Myo18b T C 5: 113,022,354 (GRCm39) probably benign Het
Nav3 T A 10: 109,739,718 (GRCm39) T84S possibly damaging Het
Olfm2 A G 9: 20,579,953 (GRCm39) V266A probably damaging Het
Or5b101 A T 19: 13,005,095 (GRCm39) Y199* probably null Het
Or5b123 C T 19: 13,596,915 (GRCm39) H87Y probably benign Het
Or6c69b T A 10: 129,627,327 (GRCm39) I44F probably damaging Het
Pthlh A T 6: 147,164,766 (GRCm39) probably null Het
Rpap3 C T 15: 97,601,082 (GRCm39) probably null Het
Rprd2 A G 3: 95,672,725 (GRCm39) S893P probably benign Het
Sacm1l G A 9: 123,377,927 (GRCm39) G69D probably damaging Het
Slc27a4 T C 2: 29,701,261 (GRCm39) S351P probably benign Het
Sobp C G 10: 42,898,415 (GRCm39) R390P probably damaging Het
Spata7 T A 12: 98,614,689 (GRCm39) M107K possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Stab2 T C 10: 86,805,735 (GRCm39) I204V probably benign Het
Synm T C 7: 67,384,804 (GRCm39) I511V probably damaging Het
Tbr1 T C 2: 61,635,373 (GRCm39) S108P probably benign Het
Tln1 A G 4: 43,555,333 (GRCm39) F197S probably damaging Het
Tmem167b C T 3: 108,467,537 (GRCm39) G46R probably benign Het
Tmprss11g T C 5: 86,638,585 (GRCm39) K301R probably benign Het
Trpm2 C T 10: 77,765,122 (GRCm39) V960M possibly damaging Het
Ube3a G A 7: 58,926,334 (GRCm39) D371N possibly damaging Het
Vmn2r57 A T 7: 41,078,225 (GRCm39) F78I probably benign Het
Other mutations in Tnfrsf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Tnfrsf21 APN 17 43,348,837 (GRCm39) missense probably damaging 1.00
IGL01663:Tnfrsf21 APN 17 43,398,702 (GRCm39) missense probably benign 0.13
IGL01811:Tnfrsf21 APN 17 43,348,504 (GRCm39) missense probably benign
IGL01916:Tnfrsf21 APN 17 43,350,694 (GRCm39) missense probably benign 0.00
IGL01934:Tnfrsf21 APN 17 43,376,078 (GRCm39) missense probably benign 0.15
IGL02184:Tnfrsf21 APN 17 43,396,354 (GRCm39) missense probably benign 0.37
IGL02292:Tnfrsf21 APN 17 43,350,802 (GRCm39) missense probably benign
IGL02385:Tnfrsf21 APN 17 43,350,942 (GRCm39) missense probably damaging 1.00
IGL02710:Tnfrsf21 APN 17 43,398,820 (GRCm39) missense probably damaging 0.97
IGL03001:Tnfrsf21 APN 17 43,398,786 (GRCm39) missense probably damaging 0.99
IGL03003:Tnfrsf21 APN 17 43,350,834 (GRCm39) missense probably damaging 1.00
PIT4480001:Tnfrsf21 UTSW 17 43,348,802 (GRCm39) missense probably benign 0.00
R0007:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0046:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0088:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0091:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0102:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0102:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0103:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0105:Tnfrsf21 UTSW 17 43,351,082 (GRCm39) critical splice donor site probably null
R0105:Tnfrsf21 UTSW 17 43,351,082 (GRCm39) critical splice donor site probably null
R0206:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0211:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0240:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0243:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0308:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0363:Tnfrsf21 UTSW 17 43,348,768 (GRCm39) missense probably benign 0.01
R0456:Tnfrsf21 UTSW 17 43,348,982 (GRCm39) missense probably benign 0.01
R0522:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0523:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0525:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0528:Tnfrsf21 UTSW 17 43,348,505 (GRCm39) missense probably benign
R0543:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0549:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0550:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0699:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0724:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0734:Tnfrsf21 UTSW 17 43,349,104 (GRCm39) missense probably benign
R0880:Tnfrsf21 UTSW 17 43,348,733 (GRCm39) nonsense probably null
R1591:Tnfrsf21 UTSW 17 43,396,265 (GRCm39) missense probably benign 0.01
R2069:Tnfrsf21 UTSW 17 43,348,829 (GRCm39) missense possibly damaging 0.67
R2153:Tnfrsf21 UTSW 17 43,398,763 (GRCm39) missense probably damaging 1.00
R2323:Tnfrsf21 UTSW 17 43,396,420 (GRCm39) nonsense probably null
R3941:Tnfrsf21 UTSW 17 43,348,901 (GRCm39) missense probably damaging 1.00
R4438:Tnfrsf21 UTSW 17 43,398,733 (GRCm39) missense possibly damaging 0.49
R4509:Tnfrsf21 UTSW 17 43,396,279 (GRCm39) missense probably benign 0.00
R4510:Tnfrsf21 UTSW 17 43,375,910 (GRCm39) missense probably damaging 0.98
R4511:Tnfrsf21 UTSW 17 43,375,910 (GRCm39) missense probably damaging 0.98
R4708:Tnfrsf21 UTSW 17 43,349,123 (GRCm39) missense possibly damaging 0.66
R4721:Tnfrsf21 UTSW 17 43,396,395 (GRCm39) missense probably damaging 1.00
R4811:Tnfrsf21 UTSW 17 43,348,621 (GRCm39) missense probably benign 0.00
R5437:Tnfrsf21 UTSW 17 43,348,753 (GRCm39) missense possibly damaging 0.55
R5767:Tnfrsf21 UTSW 17 43,348,550 (GRCm39) missense probably damaging 0.98
R6057:Tnfrsf21 UTSW 17 43,350,606 (GRCm39) missense possibly damaging 0.86
R6392:Tnfrsf21 UTSW 17 43,327,979 (GRCm39) missense probably benign 0.00
R6860:Tnfrsf21 UTSW 17 43,327,957 (GRCm39) missense probably benign
R7253:Tnfrsf21 UTSW 17 43,348,558 (GRCm39) missense probably benign 0.00
R7288:Tnfrsf21 UTSW 17 43,348,709 (GRCm39) missense possibly damaging 0.86
R7643:Tnfrsf21 UTSW 17 43,348,807 (GRCm39) missense probably benign 0.00
R7937:Tnfrsf21 UTSW 17 43,348,816 (GRCm39) missense probably benign 0.01
R8098:Tnfrsf21 UTSW 17 43,350,790 (GRCm39) missense probably benign
R8495:Tnfrsf21 UTSW 17 43,349,128 (GRCm39) missense probably benign
R8865:Tnfrsf21 UTSW 17 43,396,372 (GRCm39) missense probably damaging 1.00
R8991:Tnfrsf21 UTSW 17 43,396,299 (GRCm39) missense probably benign 0.03
R9088:Tnfrsf21 UTSW 17 43,348,607 (GRCm39) missense probably damaging 1.00
R9150:Tnfrsf21 UTSW 17 43,398,691 (GRCm39) missense probably damaging 1.00
R9220:Tnfrsf21 UTSW 17 43,398,801 (GRCm39) missense probably damaging 1.00
V3553:Tnfrsf21 UTSW 17 43,348,822 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTAAAGCTCACACGGACTGTCTGG -3'
(R):5'- GCTCCATCTACACACGATTAGCTCC -3'

Sequencing Primer
(F):5'- GGACTGTCTGGGTCAGAAC -3'
(R):5'- acaactaaaatcactcaactcactc -3'
Posted On 2013-10-16